Association of cytotoxic T-lymphocyte associated antigen 4 gene polymorphism with type 1 diabetes mellitus: A meta-analysis

Tang, Songtao; Tang, Honglei; Zhang, Qiu; Wang, Changjiang; Wang, Youmin; Peng, Wenjia

doi:10.1016/j.gene.2012.07.044

Cited by 21 publications

(18 citation statements)

References 73 publications

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“…Summary of the properties of the studies are listed in Table 1. Overall, there were 17 case-controls studies for the +49A/G polymorphism [2,5,11-13,15,17-25,27,28], 7 case–control studies for the -318C/T polymorphism [2,10-12,14,26,28] and 4 case–control studies for the CT60 polymorphism [2,10,16,18]. The genotype distributions for these polymorphisms are listed in Table 2.…”

Section: Resultsmentioning

confidence: 99%

The associations between the polymorphisms in the CTLA-4gene and the risk of Graves’ disease in the Chinese population

Yang

Huang

et al. 2013

BMC Med Genet

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BackgroundThe associations between the polymorphisms in Cytotoxic T lymphocyte-associated molecule-4 (CTLA-4) gene and Graves’ disease (GD) have been extensively investigated in Chinese population. However, the results were inconsistent. The objective of this study is to investigate the associations between the polymorphisms in CTLA-4 gene and the risk of GD by meta-analysis.MethodsWe searched Pubmed database, Medline (Ovid) database, CNKI database and Wanfang database, covering all studies until August 11, 2012. Statistical analysis was performed by using the Revman4.2 software and the Stata10.0 software.ResultsA total of 28 case–control studies concerning the most widely studied three polymorphisms [+49A/G(rs231775), -318C/T(rs5742909) and CT60(rs3087243)] for Chinese population in 21 publications were included. The results suggested that the G allele carriers (GG+GA) might have an increased risk of GD when compared with the AA homozygote carriers for the +49A/G polymorphism (GG+GA vs. AA: OR = 2.57, 95%CI = 1.87-3.52). However, as to the -318C/T polymorphism and CT60 polymorphism, the results indicated that the variant allele carriers might have decreased risks of GD when compared with the homozygote carriers (−318C/T: TT+TC vs. CC: OR = 0.78, 95%CI = 0.62-0.97; CT60: AA+AG vs. GG: OR = 0.64, 95%CI = 0.52-0.78).ConclusionsThe current meta-analysis indicated that the polymorphisms in the CLTA-4 gene might be risk factors for GD in the Chinese population. In future, more large-scale case–control studies are needed to validate these results.

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Section: Resultsmentioning

confidence: 99%

The associations between the polymorphisms in the CTLA-4gene and the risk of Graves’ disease in the Chinese population

Yang

Huang

et al. 2013

BMC Med Genet

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“…Nistico et al [12] first found a strong association between T1D risk and CTLA-4 +49A/G polymorphisms in 1996, but this was not further confirmed by Yanagawa T et al[13] in 1999. In addition, several meta-analysis studies [14–17] did not stratify by age, so the association between CTLA-4 +49A/G polymorphisms and the risk of T1D in children is still not confirmed. Since children are a group that is relatively unaffected by confounders (e.g., environment and diet), the association between CTLA-4 +49A/G polymorphisms and the risk of T1D in children can more realistically reflect genetic susceptibility to T1D.…”

Section: Introductionmentioning

confidence: 99%

Cytotoxic T-lymphocyte-associated protein 4 +49A/G polymorphisms contribute to the risk of type 1 diabetes in children: An updated systematic review and meta-analysis with trial sequential analysis

Wang

Jia

et al. 2017

Oncotarget

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Type 1 diabetes (T1D) is a heritable disease associated with multiple genetic variants. This systematic review and meta-analysis assessed the correlation between cytotoxic T-lymphocyte-associated protein 4(CTLA-4) +49A/G polymorphisms and the risk of T1D in children. The random effects model was used to estimate the related odds ratios (ORs) and 95% confidence intervals (CIs). Trial sequential analysis (TSA) was used to determine whether the currently available evidence was sufficient and conclusive. Our results indicated that CTLA-4 gene polymorphisms significantly increased the risk of childhood T1D in an allelic model (G vs. A: OR=1.33, 95%CI=1.19-1.48; I2=44.0% and P=0.001for heterogeneity) and a codominant model (GG vs. AA: OR=1.75, 95%CI=1.37-2.24; I2=57.5% and P=0.001for heterogeneity; GA vs. AA: OR=1.26, 95%CI=1.09-1.46; I2=40.4% and P=0.036for heterogeneity). Subgroup analysis results indicated that the ORs were higher in the Asian population (ORallelic model=1.60, ORGG vs. AA=2.46 and ORGA vs. AA=1.58) than the Caucasian population (ORallelic model==1.24, ORGG vs. AA=1.55 and ORGA vs. AA=1.19). The TSA results indicated that the evidence of the effect was sufficient. In conclusion, CTLA4 +49A/G polymorphisms increased the risk of T1D in children, and CTLA4 +49A/G can be considered to be a genetic marker for T1D in children.

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“…The wnt signalling pathway, including TCF-1 and LEF-1, can also modulate mature T cell function, including prolonging regulatory T cell (Treg) survival and therefore, potentially impacting on autoimmunity [61]. Four potential TCF/LEF sites have been identified within the 800 bp upstream of the start codon in human CTLA4 [62], one of which contains the C(− 318) T SNP [63] associated with altered promoter activity [63,64] and with susceptibility to Grave's disease [65], autoimmune pancreatitis [66] but not diabetes [67,68]. In one study, when a melanoma cell line was treated with wnt3a, CTLA4 was the most up-regulated gene, which was proposed to represent a mechanism of immune evasion [62].…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms in the CTLA4 promoter sequence are associated with canine hypoadrenocorticism

Boag

Short

Kennedy

et al. 2020

Canine Genet Epidemiol

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Background: Canine hypoadrenocorticism is an immune-mediated endocrinopathy that shares both clinical and pathophysiological similarities with Addison's disease in humans. Several dog breeds are overrepresented in the disease population, suggesting that a genetic component is involved, although this is likely to be polygenic. Previous research has implicated CTLA4 as a potential susceptibility gene. CTLA4 is an important regulator of T cell function and polymorphisms/mutations in CTLA4 have been associated with a number of autoimmune phenotypes in both humans and rodent models of autoimmunity. The aim of the current study was to undertake a case:control association study of CTLA4 promotor polymorphisms in three dog breeds, cocker spaniels, springer spaniels and West Highland white terriers (WHWT). Results: Polymorphisms in the CTLA4 promoter were determined by PCR and sequence-based typing. There were significant associations with three promoter haplotypes in cocker spaniels (p = 0.003). A series of SNPs were also associated with hypoadrenocorticism in cocker spaniels and springer spaniels, including polymorphisms in predicted NFAT and SP1 transcription factor binding sites. Conclusions: This study provides further evidence that CTLA4 promotor polymorphisms are associated with this complex genetic disease and supports an immune mediated aetiopathogenesis of canine hypoadrenocorticism.

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Association of cytotoxic T-lymphocyte associated antigen 4 gene polymorphism with type 1 diabetes mellitus: A meta-analysis

Cited by 21 publications

References 73 publications

The associations between the polymorphisms in the CTLA-4gene and the risk of Graves’ disease in the Chinese population

The associations between the polymorphisms in the CTLA-4gene and the risk of Graves’ disease in the Chinese population

Cytotoxic T-lymphocyte-associated protein 4 +49A/G polymorphisms contribute to the risk of type 1 diabetes in children: An updated systematic review and meta-analysis with trial sequential analysis

Polymorphisms in the CTLA4 promoter sequence are associated with canine hypoadrenocorticism

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